Incidental Mutation 'R4459:Ighg2b'
| ID |
330069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ighg2b
|
| Ensembl Gene |
ENSMUSG00000076613 |
| Gene Name |
immunoglobulin heavy constant gamma 2B |
| Synonyms |
IgG2b, gamma2b |
| MMRRC Submission |
041579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113267934-113271553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113270578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 184
(Y184C)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000103418
AA Change: Y184C
|
| SMART Domains |
Protein: ENSMUSP00000100214
Gene: ENSMUSG00000076613
AA Change: Y184C
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
22 |
92 |
6.9e-16 |
SMART |
|
low complexity region
|
108 |
121 |
N/A |
INTRINSIC |
|
IG_like
|
145 |
220 |
4.02e-2 |
SMART |
|
IGc1
|
251 |
324 |
1.64e-31 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192188
AA Change: Y184C
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
| Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,405 (GRCm39) |
D129G |
probably damaging |
Het |
| Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
| Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
| Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,691 (GRCm39) |
I208T |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
| Or14j9 |
G |
A |
17: 37,874,365 (GRCm39) |
T279I |
probably damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
| Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,979 (GRCm39) |
V31A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
| Smg8 |
T |
C |
11: 86,976,396 (GRCm39) |
D395G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Ighg2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Ighg2b
|
APN |
12 |
113,270,656 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01837:Ighg2b
|
APN |
12 |
113,270,065 (GRCm39) |
missense |
unknown |
|
|
IGL01973:Ighg2b
|
APN |
12 |
113,271,305 (GRCm39) |
missense |
unknown |
|
|
IGL01998:Ighg2b
|
APN |
12 |
113,270,709 (GRCm39) |
missense |
unknown |
|
|
IGL02147:Ighg2b
|
APN |
12 |
113,270,011 (GRCm39) |
makesense |
probably null |
|
|
IGL02183:Ighg2b
|
APN |
12 |
113,271,449 (GRCm39) |
missense |
unknown |
|
|
IGL03089:Ighg2b
|
APN |
12 |
113,270,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Ighg2b
|
UTSW |
12 |
113,270,492 (GRCm39) |
missense |
unknown |
|
|
R4199:Ighg2b
|
UTSW |
12 |
113,270,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4577:Ighg2b
|
UTSW |
12 |
113,270,512 (GRCm39) |
missense |
unknown |
|
|
R4589:Ighg2b
|
UTSW |
12 |
113,270,104 (GRCm39) |
missense |
unknown |
|
|
R4807:Ighg2b
|
UTSW |
12 |
113,267,965 (GRCm39) |
unclassified |
probably benign |
|
|
R4822:Ighg2b
|
UTSW |
12 |
113,270,011 (GRCm39) |
makesense |
probably null |
|
|
R5424:Ighg2b
|
UTSW |
12 |
113,271,550 (GRCm39) |
missense |
unknown |
|
|
R5641:Ighg2b
|
UTSW |
12 |
113,270,767 (GRCm39) |
missense |
unknown |
|
|
R6297:Ighg2b
|
UTSW |
12 |
113,270,512 (GRCm39) |
missense |
unknown |
|
|
R6701:Ighg2b
|
UTSW |
12 |
113,270,699 (GRCm39) |
missense |
unknown |
|
|
R6703:Ighg2b
|
UTSW |
12 |
113,268,653 (GRCm39) |
unclassified |
probably benign |
|
|
R6880:Ighg2b
|
UTSW |
12 |
113,270,726 (GRCm39) |
missense |
|
|
|
R7342:Ighg2b
|
UTSW |
12 |
113,270,050 (GRCm39) |
missense |
|
|
|
R7505:Ighg2b
|
UTSW |
12 |
113,268,600 (GRCm39) |
missense |
|
|
|
R7908:Ighg2b
|
UTSW |
12 |
113,270,074 (GRCm39) |
missense |
|
|
|
R8543:Ighg2b
|
UTSW |
12 |
113,270,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8951:Ighg2b
|
UTSW |
12 |
113,270,926 (GRCm39) |
missense |
probably benign |
|
|
R9237:Ighg2b
|
UTSW |
12 |
113,270,217 (GRCm39) |
missense |
|
|
|
R9539:Ighg2b
|
UTSW |
12 |
113,270,498 (GRCm39) |
missense |
|
|
|
R9789:Ighg2b
|
UTSW |
12 |
113,270,304 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGCTGAAGTGGAAGGC -3'
(R):5'- GTGGACCATCCGTCTTCATC -3'
Sequencing Primer
(F):5'- TGGAAGGCTGTCCACATAGAC -3'
(R):5'- TCTTCCCTCCAAATATCAAGGATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation